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Center for Genetic Muscle Disorders: Patient Care Approach

As a first step, we discuss the onset and progression of symp­toms, examine muscles and other organ systems, and review any previous testing. Our team may recommend a blood test or muscle biopsy. A genetic counselor guides patients through the diagnostic process. Once a diagnosis has been confirmed, we tailor a treatment plan to the needs of each patient. The team may provide medical management through the use of corticosteroids or other drugs, which need to be carefully monitored. In addition, patients receive an assess­ment and individualized rehabilitation treatment plan. The team also manages contractures (shortening of the muscle or tendon), scoliosis, and heart and lung function. Finally, to help ensure each patient’s success in community life, our social worker assists patients and families in securing any needed social, financial, and educational support.